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[Papillon-Lefèvre syndrome: A new case].
Martinho S, Levade T, Fergelot P, Stephan JL. Martinho S, et al. Among authors: levade t. Arch Pediatr. 2017 Apr;24(4):360-362. doi: 10.1016/j.arcped.2017.01.013. Epub 2017 Feb 24. Arch Pediatr. 2017. PMID: 28242153 French.
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T. Redonnet-Vernhet I, et al. Among authors: levade t. Biochim Biophys Acta. 1996 Nov 15;1317(2):127-33. doi: 10.1016/s0925-4439(96)00044-0. Biochim Biophys Acta. 1996. PMID: 8950198 Free article.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Among authors: levade t. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826
305 results